UDP-galactose translocator explained

UDP-galactose translocator is a protein that in humans is encoded by the SLC35A2 gene.^{[1] [2]}

Somatic loss-of-function variants in the SLC35A2 gene were originally associated with focal epilepsy with radiographically nonlesional epilepsy.^[3] Later it was discovered that individuals with somatic variants in SLC35A2 have a mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE), which is a subtype of frontal lobe epilepsy.^[4]

See also

• Solute carrier family

Further reading

• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–4 . January 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Miura N, Ishida N, Hoshino M, Yamauchi M, Hara T, Ayusawa D, Kawakita M . Human UDP-galactose translocator: molecular cloning of a complementary DNA that complements the genetic defect of a mutant cell line deficient in UDP-galactose translocator . Journal of Biochemistry . 120 . 2 . 236–41 . August 1996 . 8889805 . 10.1093/oxfordjournals.jbchem.a021404 .
• Ishida N, Miura N, Yoshioka S, Kawakita M . Molecular cloning and characterization of a novel isoform of the human UDP-galactose transporter, and of related complementary DNAs belonging to the nucleotide-sugar transporter gene family . Journal of Biochemistry . 120 . 6 . 1074–8 . December 1996 . 9010752 . 10.1093/oxfordjournals.jbchem.a021523 .
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . October 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 .
• Yoshioka S, Sun-Wada GH, Ishida N, Kawakita M . Expression of the human UDP-galactose transporter in the Golgi membranes of murine Had-1 cells that lack the endogenous transporter . Journal of Biochemistry . 122 . 4 . 691–5 . October 1997 . 9399569 . 10.1093/oxfordjournals.jbchem.a021810 .
• Aoki K, Ishida N, Kawakita M . Substrate recognition by UDP-galactose and CMP-sialic acid transporters. Different sets of transmembrane helices are utilized for the specific recognition of UDP-galactose and CMP-sialic acid . The Journal of Biological Chemistry . 276 . 24 . 21555–61 . June 2001 . 11279205 . 10.1074/jbc.M101462200 . free .
• Kumamoto K, Goto Y, Sekikawa K, Takenoshita S, Ishida N, Kawakita M, Kannagi R . Increased expression of UDP-galactose transporter messenger RNA in human colon cancer tissues and its implication in synthesis of Thomsen-Friedenreich antigen and sialyl Lewis A/X determinants . Cancer Research . 61 . 11 . 4620–7 . June 2001 . 11389099 .
• Sprong H, Degroote S, Nilsson T, Kawakita M, Ishida N, van der Sluijs P, van Meer G . Association of the Golgi UDP-galactose transporter with UDP-galactose:ceramide galactosyltransferase allows UDP-galactose import in the endoplasmic reticulum . Molecular Biology of the Cell . 14 . 8 . 3482–93 . August 2003 . 12925779 . 181583 . 10.1091/mbc.E03-03-0130 .
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M . 6 . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . October 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 .

Notes and References

1. Hara T, Yamauchi M, Takahashi E, Hoshino M, Aoki K, Ayusawa D, Kawakita M . The UDP-galactose translocator gene is mapped to band Xp11.23-p11.22 containing the Wiskott-Aldrich syndrome locus . Somatic Cell and Molecular Genetics . 19 . 6 . 571–5 . November 1993 . 8128316 . 10.1007/BF01233383 . 10466290 .
2. Web site: Entrez Gene: SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2.
3. Winawer MR, Griffin NG, Samanamud J, Baugh EH, Rathakrishnan D, Ramalingam S, Zagzag D, Schevon CA, Dugan P, Hegde M, Sheth SA, McKhann GM, Doyle WK, Grant GA, Porter BE, Mikati MA, Muh CR, Malone CD, Bergin AM, Peters JM, McBrian DK, Pack AM, Akman CI, LaCoursiere CM, Keever KM, Madsen JR, Yang E, Lidov HG, Shain C, Allen AS, Canoll PD, Crino PB, Poduri AH, Heinzen EL . Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy . Ann Neurol . 83 . 6 . 1133–46 . June 2018 . 29679388 . 6105543 . 10.1002/ana.25243 .
4. Bonduelle T, Hartlieb T, Baldassari S, Sim NS, Kim SH, Kang HC, Kobow K, Coras R, Chipaux M, Dorfmüller G, Adle-Biassette H, Aronica E, Lee JH, Blumcke I, Baulac S . 6 . Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) . Acta Neuropathologica Communications . 9 . 1 . 3 . January 2021 . 33407896 . 7788938 . 10.1186/s40478-020-01085-3 . free .